Showing results (61-70 of 68) with videos related to
Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 68 results.
Human Mutation|September 11, 2008
TCF4 deletions in Pitt-Hopkins SyndromeIrina Giurgea, Chantal Missirian, Pierre Cacciagli, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|July 26, 2011
A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practiceCatherine Costa, Virginie Pruliere-Escabasse, Alix de Becdelievre, et al.European Heart Journal|November 6, 2015
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thicknessThibaud Damy, Bruno Costes, Albert A Hagège, et al.American Journal of Human Genetics|May 7, 2013
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafnessVeronique Pingault, Virginie Bodereau, Viviane Baral, et al.European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.European Journal of Human Genetics : EJHG|April 16, 2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defectsEmma Hilton, Jennifer Johnston, Sandra Whalen, et al.Human Mutation|November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrumSandra Whalen, Delphine Héron, Thierry Gaillon, et al.Journal of Medical Genetics|February 5, 2013
CFTR p.Arg117His associated with CBAVD and other CFTR-related disordersChristel Thauvin-Robinet, Anne Munck, Frédéric Huet, et al.Pageof 7